GHRHR[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 291

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 56966	NC_000007.14:g.30959635_30967328delinsAGAGATCCA	GHRHR	Indel	Isolated growth hormone deficiency type IB	GPathogenic
Select item 1258935	NC_000007.14:g.30963808C>T	GHRHR	Single nucleotide variant	not provided	GBenign
Select item 1221154	NC_000007.14:g.30963834C>T	GHRHR	Single nucleotide variant	not provided	GBenign
Select item 15995	NC_000007.14:g.30963945A>C	GHRHR	Single nucleotide variant	Isolated growth hormone deficiency, type 4	GPathogenic
Select item 360026	NM_000823.4(GHRHR):c.-45C>T	GHRHR	Single nucleotide variant (5 prime UTR variant)	Isolated growth hormone deficiency type IB +1 more	GBenign
Select item 1371032	NM_000823.4(GHRHR):c.1A>T (p.Met1Leu)	GHRHR (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 911972	NM_000823.4(GHRHR):c.6C>T (p.Asp2=)	GHRHR	Single nucleotide variant (synonymous variant)	Isolated growth hormone deficiency type IB +1 more	GConflicting classifications of pathogenicity
Select item 1420884	NM_000823.4(GHRHR):c.8G>A (p.Arg3His)	GHRHR (R3H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 909041	NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)	GHRHR (R4W)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 1985693	NM_000823.4(GHRHR):c.11G>A (p.Arg4Gln)	GHRHR (R4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099735	NM_000823.4(GHRHR):c.14T>C (p.Met5Thr)	GHRHR (M5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2100297	NM_000823.4(GHRHR):c.15G>T (p.Met5Ile)	GHRHR (M5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459534	NM_000823.4(GHRHR):c.22dup (p.Ala8fs)	GHRHR (A8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1575400	NM_000823.4(GHRHR):c.27C>T (p.His9=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461216	NM_000823.4(GHRHR):c.28G>A (p.Val10Ile)	GHRHR (V10I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 360027	NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)	GHRHR (V10G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 909042	NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu)	GHRHR (P16L)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GConflicting classifications of pathogenicity
Select item 1031665	NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)	GHRHR (P18L)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 3339193	NM_000823.4(GHRHR):c.54G>A (p.Pro18=)	GHRHR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 281514	NM_000823.4(GHRHR):c.57C>T (p.Thr19=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 360028	NM_000823.4(GHRHR):c.57+1G>T	GHRHR	Single nucleotide variant (splice donor variant)	Isolated growth hormone deficiency type IB	GUncertain significance
Select item 15990	NM_000823.4(GHRHR):c.57+1G>A	GHRHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1610771	NM_000823.4(GHRHR):c.57+17G>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915250	NM_000823.4(GHRHR):c.57+19C>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182916	NM_000823.4(GHRHR):c.57+79C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281216	NM_000823.4(GHRHR):c.57+221A>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231100	NM_000823.4(GHRHR):c.57+298G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896814	NM_000823.4(GHRHR):c.63G>A (p.Leu21=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099740	NM_000823.4(GHRHR):c.86A>T (p.Asp29Val)	GHRHR (D29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749584	NM_000823.4(GHRHR):c.93C>T (p.Ile31=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3281355	NM_000823.4(GHRHR):c.116G>A (p.Ser39Asn)	GHRHR (S39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1552970	NM_000823.4(GHRHR):c.124C>T (p.Leu42=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157957	NM_000823.4(GHRHR):c.136GAG[1] (p.Glu47del)	GHRHR (E47del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 598315	NM_000823.4(GHRHR):c.138G>A (p.Glu46=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 909043	NM_000823.4(GHRHR):c.151A>G (p.Thr51Ala)	GHRHR (T51A)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB	GLikely benign
Select item 3026388	NM_000823.4(GHRHR):c.160+1G>T	GHRHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1574137	NM_000823.4(GHRHR):c.160+8G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288513	NM_000823.4(GHRHR):c.160+56C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567662	NM_000823.4(GHRHR):c.161-18T>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023757	NM_000823.4(GHRHR):c.161-17C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127953	NM_000823.4(GHRHR):c.161-11T>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 36273	NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr)	GHRHR (A57T)	Single nucleotide variant (missense variant)	Idiopathic growth hormone deficiency +3 more	GBenign
Select item 1328342	NM_000823.4(GHRHR):c.170C>T (p.Ala57Val)	GHRHR (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1593974	NM_000823.4(GHRHR):c.171G>A (p.Ala57=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1944871	NM_000823.4(GHRHR):c.174C>G (p.Thr58=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909044	NM_000823.4(GHRHR):c.174C>A (p.Thr58=)	GHRHR	Single nucleotide variant (synonymous variant)	Isolated growth hormone deficiency type IB	GUncertain significance
Select item 1374345	NM_000823.4(GHRHR):c.193_194inv (p.Trp65Gln)	GHRHR (W65Q)	Inversion (missense variant)	not provided	GUncertain significance
Select item 597306	NM_000823.4(GHRHR):c.194G>A (p.Trp65Ter)	GHRHR (W65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 909045	NM_000823.4(GHRHR):c.200C>T (p.Thr67Met)	GHRHR (T67M)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 2160818	NM_000823.4(GHRHR):c.201G>A (p.Thr67=)	GHRHR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 360029	NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala)	GHRHR (S70A)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB	GUncertain significance
Select item 2855257	NM_000823.4(GHRHR):c.213C>G (p.Gly71=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418396	NM_000823.4(GHRHR):c.213C>T (p.Gly71=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 15989	NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)	GHRHR (E72*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4 +1 more	GPathogenic
Select item 2131375	NM_000823.4(GHRHR):c.224C>A (p.Thr75Asn)	GHRHR (T75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393002	NM_000823.4(GHRHR):c.230C>T (p.Pro77Leu)	GHRHR (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092096	NM_000823.4(GHRHR):c.231C>T (p.Pro77=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909902	NM_000823.4(GHRHR):c.237G>A (p.Pro79=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1483303	NM_000823.4(GHRHR):c.253T>C (p.Phe85Leu)	GHRHR (F85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099736	NM_000823.4(GHRHR):c.257G>C (p.Ser86Thr)	GHRHR (S86T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440458	NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)	GHRHR (S87*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 2702303	NM_000823.4(GHRHR):c.268+11del	GHRHR	Deletion (intron variant)	not provided	GLikely benign
Select item 1239398	NM_000823.4(GHRHR):c.268+112C>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284010	NM_000823.4(GHRHR):c.268+267C>G	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2657376	NM_000823.4(GHRHR):c.269-26G>T	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2113857	NM_000823.4(GHRHR):c.269-13G>A	GHRHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969714	NM_000823.4(GHRHR):c.269-3del	GHRHR	Deletion (intron variant)	not provided	GLikely benign
Select item 2418946	NC_000007.14:g.30969869dup	GHRHR	Duplication	not provided	GPathogenic
Select item 909903	NM_000823.4(GHRHR):c.272C>T (p.Ala91Val)	GHRHR (A91V)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB +1 more	GBenign/Likely benign
Select item 909904	NM_000823.4(GHRHR):c.279A>G (p.Lys93=)	GHRHR	Single nucleotide variant (synonymous variant)	Isolated growth hormone deficiency type IB	GUncertain significance
Select item 1449976	NM_000823.4(GHRHR):c.280C>T (p.Arg94Trp)	GHRHR (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161436	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	GHRHR (R94Q)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 2020481	NM_000823.4(GHRHR):c.282G>T (p.Arg94=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719597	NM_000823.4(GHRHR):c.290del (p.Thr97fs)	GHRHR (T97fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2188815	NM_000823.4(GHRHR):c.300C>T (p.Gly100=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892347	NM_000823.4(GHRHR):c.312C>T (p.Pro104=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314386	NM_000823.4(GHRHR):c.313T>C (p.Phe105Leu)	GHRHR (F105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535398	NM_000823.4(GHRHR):c.327T>C (p.Pro109=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397396	NM_000823.4(GHRHR):c.328G>A (p.Val110Met)	GHRHR (V110M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528075	NM_000823.4(GHRHR):c.354G>A (p.Leu118=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 909905	NM_000823.4(GHRHR):c.359C>T (p.Ala120Val)	GHRHR (A120V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36274	NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp)	GHRHR (E121D)	Single nucleotide variant (missense variant)	Idiopathic growth hormone deficiency +2 more	GBenign
Select item 36275	NM_000823.4(GHRHR):c.366+13T>G	GHRHR	Single nucleotide variant (intron variant)	Idiopathic growth hormone deficiency +2 more	GBenign
Select item 1256785	NM_000823.4(GHRHR):c.366+153T>C	GHRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3339011	NM_000823.4(GHRHR):c.367-12T>G	GHRHR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3099738	NM_000823.4(GHRHR):c.377T>C (p.Phe126Ser)	GHRHR (F126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1537562	NM_000823.4(GHRHR):c.384A>G (p.Thr128=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175036	NM_000823.4(GHRHR):c.385G>A (p.Val129Met)	GHRHR (V129M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305189	NM_000823.4(GHRHR):c.394A>G (p.Ile132Val)	GHRHR (I132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2721124	NM_000823.4(GHRHR):c.402C>T (p.Thr134=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917096	NM_000823.4(GHRHR):c.405G>A (p.Val135=)	GHRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161435	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	GHRHR (S140P)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency type IB	GLikely pathogenic
Select item 2404439	NM_000823.4(GHRHR):c.422T>C (p.Ile141Thr)	GHRHR (I141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3